Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Koolen-De Vries syndrome, OMIM:610443
- Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- PMID: 25217958
- PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies
- 610443
- Koolen-De Vries syndrome 610443
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Koolen-De Vries syndrome, OMIM:610443
- Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Koolen-De Vries syndrome, OMIM:610443
- Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Koolen-De Vries syndrome, OMIM:610443
- Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- ClinGen
Phenotypes
- Koolen-De Vries syndrome, OMIM:610443
- Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.553
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Koolen-De Vries syndrome, OMIM:610443
- Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
|